Tbc1d32^b2b3260.1Clo
Chemically induced Allele Detail

Summary

• Symbol: Tbc1d32^b2b3260.1Clo
• Name: TBC1 domain family, member 32; Bench to Bassinet Program (B2B/CVDC), mutation 3260, subline 1 Cecilia Lo
• MGI ID: MGI:5648205
• Gene: Tbc1d32 Location: Chr10:55890389-56104785 bp, - strand Genetic Position: Chr10, 28.45 cM
• Alliance: Tbc1d32^b2b3260.1Clo page

Mutant 3260-006-2 (E16.5) exhibited an abnormal arrangement of the outflow tracts which was diagnosed as DORV (TOF Type), hypoplastic pulmonary, long right PDA, right aortic arch, and aberrant left subclavian artery by episcopic confocal histopathology

Show the 18 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: B2B/CvDC

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: This ENU-induced mutation was isolated in a screen at the University of Pittsburgh. It is a subline of b2b3260Clo. The molecular lesion is a G to A substitution at nucleotide +1 after coding nucleotide 3100 (c.3100+1G>A, NM_001033385) in intron 27. This changes splice donor site G-GT to G-AT (which is assumed to be inactive). (J:175213)

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Tbc1d32 Mutation: 58 strains or lines available

Notes

Summative Diagnosis:
Cardiovascular phenotypes: Dysplastic semilunar valves, persistent truncus arteriosus (PTA), transposition of the great arteries (TGA)

Noncardiovascular phenotype: short snout, exencephaly, preaxial digit duplication, renal anomalies

References

• Original: J:175213 Lo C, Information submitted by the NHLBI Cardiovascular Development Consortium (CvDC), Bench to Bassinet Program (B2B/CvDC). MGI Direct Data Submission (B2B/CvDC). 2011-09-12
• All: 3 reference(s)